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Pitt-Hopkins syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0012589

Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing. [ Orphanet:2896 ]

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:702344008 (MONDO:equivalentTo)
  • NCIT:C129872 (MONDO:equivalentTo)
  • Orphanet:2896 (OMIM:610954)
  • ICD10:Q87.0 (Orphanet:2896)
  • UMLS:C1970431 (Orphanet:2896)
  • MESH:C537403 (Orphanet:2896)
  • GARD:0004372 (MONDO:equivalentTo)
  • ICD9:758.5 (i2s)
  • DOID:0060488 (MONDO:equivalentTo)
  • OMIM:610954 (Orphanet:2896)
Subsets

gard_rare, ordo_malformation_syndrome

A synonym that is historic and discouraged
mental retardation, Syndromal, with intermittent hyperventilation [ https://omim.org/entry/610954 ]

definition

Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.

exactMatch

http://identifiers.org/omim/610954

http://purl.obolibrary.org/obo/DOID_0060488

http://identifiers.org/mesh/C537403

http://linkedlifedata.com/resource/umls/id/C1970431

http://purl.obolibrary.org/obo/NCIT_C129872

http://www.orpha.net/ORDO/Orphanet_2896

http://identifiers.org/snomedct/702344008

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015653

has exact synonym

Pitt-Hopkins syndrome

has related synonym

mental retardation, Syndromal, with intermittent hyperventilation

Pitt Hopkins syndrome

intellectual disability, Syndromal, with intermittent hyperventilation

intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea

PTHS

encephalopathy, Severe epileptic, with autonomic dysfunction

id

MONDO:0012589

seeAlso

https://rarediseases.info.nih.gov/diseases/4372/pitt-hopkins-syndrome